title: Specific splice variants are associated with Parkinson's disease.
abstract: BACKGROUND
  Diagnosis of Parkinson's disease (PD) currently relies on assessment of motor symptoms. Recently, sensitive, specific, and readily available splice variant-specific biomarkers were identified in peripheral blood from participants in the Diagnostic and Prognostic Biomarkers in Parkinson Disease study.
  
  
  METHODS
  Here we test for an association between candidate splice variant biomarkers and PD in blood of an independent population of cases and controls nested in the Harvard NeuroDiscovery Center Biomarker Study.
  
  
  RESULTS
  Expression of 7 out of 13 candidate biomarkers was dysregulated in whole cellular blood of patients with PD.
  
  
  CONCLUSIONS
  These results support the view that differential expression of a subset of splice-variant markers in blood is associated with PD. Further evaluation in untreated, de novo patients and at-risk subjects is warranted.
authors.affiliation: Department of Cellular and Molecular Pharmacology, The Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois, USA.
authors.forename: Jose A
authors.initials: JA
authors.lastname: Santiago
authors.forename: Clemens R
authors.initials: CR
authors.lastname: Scherzer
authors.forename: Judith A
authors.initials: JA
authors.lastname: Potashkin
mesh_terms: D000368:Aged; D015415:Biomarkers / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000097:blood / Q000175:diagnosis*; D020033:Protein Isoforms / Q000097:blood*
chemical_list: D015415:Biomarkers; D020033:Protein Isoforms
keywords: Parkinson's disease; biomarker; gene expression; neurodegeneration; splicing